Chronic Granulomatous Disease (CGD)

Inborn Error of Immunity

Chronic granulomatous disease (CGD) is an inherited condition caused by a faulty gene. Children with CGD have a defect in the immune system, the body’s defense against infections. They are often healthy at birth, but starting in infancy or early childhood they get very sick from infections that would be mild in other children. The faulty gene that most commonly causes CGD is on the X chromosome; however, problems in genes on other chromosomes can also cause CGD. The disease mostly affects boys, who have only one X chromosome, inherited from their mother; however, girls can also have CGD if they inherit the faulty gene from both parents.

Paul Szabolcs, MD

Chief, Bone Marrow Transplantation and Cellular Therapies

A pioneer in reduced-toxicity/intensity unrelated donor cord blood transplantation for inborn errors of immunity, Dr. Szabolcs is the first to demonstrate the feasibility of sequential lung and bone marrow transplantation from the same unrelated cadaveric donor.

What to Expect

If your child has been diagnosed with chronic granulomatous disease, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help. Here’s what you can expect when you come to us for a consultation.

How quickly can we get an appointment?

At the Center for Rare Disease Therapy, a doctor specializing in disorders of immunity can usually see a new patient within 1 to 2 weeks. To make an appointment, please call Jodie Vento at 412-692-7273 or send an email to rarecare@chp.edu.

How long should we expect our first visit with the doctor to take?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a complete evaluation and may be seen by several doctors and other health care professionals.

What will happen during our first visit?

Your child will receive a complete evaluation to establish or confirm a precise diagnosis and determine how much the disease has affected the child. Because we work as a team here at the Center for Rare Disease Therapy, during your visit, your child may be seen by several doctors and other health care professionals. These health care professionals may include a infectious disease physician, hematologist, gastroenterologist, and a bone marrow transplant physician.

We understand that the whole family is affected when a child has a rare disease. We also know that you, the family, know your child better than anyone else. We see each family as our partner in caring for their child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in rare diseases with your expertise in what’s best for your child.

We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. We will help you understand what a blood or bone marrow transplant entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask our specialists any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.

By the end of your visit, you will have a care plan tailored to your child’s needs and an appointment for a follow-up visit. You will be introduced to our social worker and our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.

How long might we have to wait for test results?

Depending upon the types of tests that the doctors order, you can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.

Meet Our Patients

Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.